C4310692[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +6 more	GPathogenic
Select item 2412754	NM_001378183.1(PIEZO2):c.2004del (p.Glu668fs)	PIEZO2 (E668fs)	Deletion (frameshift variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic